Recruiting

Inherited Neurological Disorders

Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Code:

NCT00004568

Conditions

Motor Neuron Disease

Muscular Disease

Muscular Dystrophy

Peripheral Nervous System Disease

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of diseases in the following categories: hereditary peripheral neuropathies; hereditary myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; hereditary neurocognitive disorders; inherited neurological disorders without known diagnosis; and others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are rare and poorly understood.

Children and adults of all ages with various inherited neurological disorders may be eligible for this study. Participants will undergo a detailed medical and family history, and a family tree will be drawn. They will also have a physical and neurological examination that may include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be taken for genetic testing. Depending on the individual patient s symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may also be done.

Information from this study may provide a better understanding of the genetic underpinnings of these disorders, contributing to improved diagnosis, treatment, and genetic counseling, and perhaps leading to additional studies in these areas.

...

Conditions

Motor Neuron Disease

Muscular Disease

Muscular Dystrophy

Peripheral Nervous System Disease

Study ID

NCT00004568

Start date

Feb 18, 2000

Status verified date

Mar 13, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

  • Participants include those with inherited neurological conditions based on the training and research needs of the Neurogenetics Branch program. There is no logical limit; however the total number of participants that can be enrolled in the protocol will be restricted. No more than 3,500 participants with either diagnosed or undiagnosed neurological conditions and their unaffected relatives will be enrolled in this evaluation and diagnostic protocol.

INCLUSION CRITERIA:

Participants will be eligible if they:

  • Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease.
  • Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity.
  • Aged 2 years and above.

EXCLUSION CRITERIA:

Participants will not be eligible if they:

-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.

Study Design

Enrollment

3500 participants

Anticipated

Interventions and Outcome Measures

Arms

Inherited Neurological Patients

Includes individuals and families with a known or unknown inherited neurological condition.

Primary outcome measure

  • Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and students [ Time Frame: Outcome measures assessed at initial visit and ongoing until a genetic diagnosis is made. Duration of study 15 years (per protocol). ]

Central Contacts and Locations

Central contacts

Alice B Schindler

(301) 496-8969schindlerab@mail.nih.gov

Christopher Grunseich, M.D.

(301) 402-5423grunseichc@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Last update posted

Sep 8, 2026

Last verified

Mar 13, 2026

Keywords

  • Myopathy
  • Muscular Dystrophy
  • Motor Neuron Disease

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Neurological Disorders and Stroke (NINDS) on 2026-09-08.